| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Gombo Syndrome |
|
Clinodactyly, Abnormal heart morphology, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... |
ORPHA:750 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals |
OMIM:269630 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Hernia o... |
ORPHA:1277 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Developmental c... |
ORPHA:557003 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal car... |
ORPHA:2370 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Craniosynostosis, V... |
OMIM:241500 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga, Delayed skeletal maturation, Abnormality of the vertebral column, Wris... |
OMIM:191420 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Reduced bone mineral density, Delayed ossification of carpal bones, Short femora... |
OMIM:618392 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... |
ORPHA:485 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Ecchymosis... |
ORPHA:464329 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Short pa... |
ORPHA:915 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
| Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Abnormality of th... |
ORPHA:356961 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Claw hand deformity, Optic atrophy, Hammertoe, Pes cavus |
OMIM:618511 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fracture... |
ORPHA:53 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femora... |
OMIM:601559 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormal hair morphology, Abnormal sacrum morphology, Bo... |
ORPHA:2591 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Congenital diaphragmati... |
OMIM:166300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Delayed skeletal maturation... |
OMIM:618440 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal de... |
OMIM:615583 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren... |
ORPHA:436 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma... |
OMIM:201000 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia... |
OMIM:156400 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Facial palsy, Elbow contracture, Elevated circulating creatine kinase concentra... |
OMIM:606612 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Coarse metaphyseal trabecularization, Alopecia, Osteomalacia, Recurrent fractu... |
ORPHA:93160 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
| Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
| Monosomy 13Q34 |
|
Pes planus, Hypercalcemia, Epistaxis, Micrognathia, Postaxial hand polydactyly, Insulin resistanc... |
ORPHA:96168 |
| Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... |
OMIM:604381 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Small for g... |
OMIM:607143 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Carious teeth, Pl... |
ORPHA:377 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Os... |
OMIM:177170 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Hypercalcemia, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Pa... |
ORPHA:476126 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Short long bone, Vertebral segmentation d... |
OMIM:618845 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... |
ORPHA:2619 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Hypercalcemia, Craniosynostosis, Delayed... |
OMIM:614732 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Gait di... |
ORPHA:1445 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:264700 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ... |
ORPHA:2332 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteoly... |
ORPHA:88630 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Hypop... |
ORPHA:93315 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Hypocalcemia, Calvarial osteosclerosis, Hepatomegaly, Increased bone mineral density, ... |
OMIM:259700 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty... |
ORPHA:3210 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar... |
OMIM:620076 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Retinal detachment, Abnormal hip joint morphology, Broad hallux, Talipes,... |
ORPHA:1856 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Sparse facial hair, Sparse axillary hai... |
OMIM:608154 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... |
ORPHA:959 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, ... |
OMIM:244600 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnorma... |
ORPHA:3098 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow... |
ORPHA:2916 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Weight loss, Hypertension, Neoplasm of the live... |
ORPHA:69077 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hypoplasia of the odontoi... |
OMIM:184250 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Con... |
ORPHA:94080 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Retinal dystrophy, Single transv... |
OMIM:616651 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Cataract, Hypoplasia of the maxilla, Postaxial han... |
OMIM:136760 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Low posterior hairline, Abnorm... |
ORPHA:2345 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Akinesia, Micrognathia, Multipl... |
OMIM:253290 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Microretrognathia, Hepatomegaly, Flexion contracture, Optic atrophy, Small han... |
OMIM:300884 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Conjunctivitis, Hypoplasia of the pri... |
ORPHA:90321 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Limitation of joint mobility, Ectopic ossification in liga... |
ORPHA:337 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Short palm, Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnor... |
ORPHA:2511 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Dilated cardiomyopathy, Brachydactyly |
ORPHA:168796 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Abnormal peripheral nervous system morphology, Int... |
ORPHA:464321 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Recurrent fractures, Obesity,... |
ORPHA:251004 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
| Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
| Retinopathy Of Prematurity |
|
Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal... |
ORPHA:90050 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Thoracic scoliosis, Single transverse palmar crease, Bul... |
OMIM:216550 |
| Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Waddling gait, Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Accelerated skeletal ma... |
OMIM:165800 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Jaw swelling, Camptodactyly of finger, Optic atrophy, Gait ataxia, Flexion contracture of toe |
OMIM:619323 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, M... |
OMIM:608940 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly... |
ORPHA:137834 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial... |
ORPHA:904 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ... |
ORPHA:289157 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth... |
ORPHA:93324 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology... |
ORPHA:1390 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly, Abnormal form of the vertebral b... |
ORPHA:2710 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys... |
OMIM:300232 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... |
OMIM:156510 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... |
ORPHA:320396 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly |
OMIM:618618 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Brachydactyly, Hip contracture, Retinal dystrophy, Epiphyseal dyspl... |
ORPHA:353298 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho... |
OMIM:617405 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... |
ORPHA:508498 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Delayed skeletal... |
ORPHA:369837 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Single transverse palmar crease, Micr... |
ORPHA:96334 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Coloboma, Radioulnar synostosi... |
ORPHA:921 |
| Lamb-Shaffer Syndrome |
|
Pes planus, Overlapping toe, Long fingers, Vertebral clefting, Optic atrophy, Scoliosis, Clinodac... |
OMIM:616803 |
| Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... |
OMIM:139210 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Micrognathia, Highly arched e... |
OMIM:300590 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Short toe, Delayed skelet... |
ORPHA:3085 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
| Acromicric Dysplasia |
|
Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal... |
ORPHA:969 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Marinesco-Sjögren Syndrome |
|
Short palm, Cataract, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Ab... |
ORPHA:559 |
| Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordo... |
OMIM:607095 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short metatarsal, Osteoporosis... |
OMIM:612462 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosy... |
OMIM:619451 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal hand morphology, Clinodactyly of the 5th finger, Short digit, Sho... |
ORPHA:228190 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Hypotriglyceridemia, Short... |
ORPHA:85167 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abno... |
ORPHA:3051 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam... |
ORPHA:1133 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu... |
OMIM:135100 |
| Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Letha... |
ORPHA:99826 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Card... |
ORPHA:320360 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Failure to thrive, Hypoglycemia, Hyperc... |
ORPHA:199299 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, A... |
OMIM:615883 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic... |
OMIM:600325 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinov... |
OMIM:612626 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Positional foot deformity, Atrial septal defect, Prominent fingertip pads,... |
OMIM:610443 |
| Alg6-Cdg |
|
Failure to thrive, Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all d... |
ORPHA:79320 |
| Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Highly a... |
ORPHA:263463 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Prominent U wave, Short palm, Clinodac... |
OMIM:170390 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha... |
OMIM:212720 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor ... |
ORPHA:90653 |
| Atelis Syndrome 2 |
|
Pes planus, Sacral dimple, Remnants of the hyaloid vascular system, Single transverse palmar crea... |
OMIM:620185 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Micrognathia, Large for gestatio... |
OMIM:213980 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Inabilit... |
OMIM:615547 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt... |
OMIM:602271 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Coloboma, ... |
ORPHA:251014 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, Brachydactyly |
OMIM:612463 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... |
ORPHA:99947 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Cataract, Down-sloping shoulders, Kyphoscoliosis, Palmar... |
OMIM:109400 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... |
ORPHA:3152 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Mi... |
OMIM:616171 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Cataract, Bicuspid aortic valve, Arachnodactyly, Abno... |
ORPHA:96169 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Micrognathia, Osteoporosis, Short foot, Abnormal diaphys... |
ORPHA:3409 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Reduced bone mine... |
ORPHA:172 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
| Adamantinoma |
|
Pathologic fracture, Bone pain, Hypercalcemia |
ORPHA:55881 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Chorioretinal coloboma, ... |
ORPHA:1777 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, ... |
ORPHA:439822 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Exudative Vitreoretinopathy 4 |
|
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreor... |
OMIM:601813 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Keratitis, Abnormal foot morphology, Osteoarthritis, ... |
ORPHA:1657 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Ataxia, Sparse eyebrow, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tai... |
OMIM:619692 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morpho... |
ORPHA:192 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... |
OMIM:620306 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Op... |
OMIM:618476 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Craniosynostosis, C... |
ORPHA:1520 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Abnormal sacrum morphology, Abnorm... |
ORPHA:1988 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
| Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Purpura, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Short metatarsal, Advanced ossificati... |
OMIM:614613 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Joint hypermobility, Increased blood urea nitrogen,... |
OMIM:223360 |
| Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Inability to walk, Op... |
ORPHA:544469 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short toe, Short metatarsal, O... |
OMIM:103580 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Neutropenia, Clinodactyly of the ... |
ORPHA:193 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypopl... |
ORPHA:79345 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... |
ORPHA:1327 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture, Low posterior hairline, C... |
OMIM:616549 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Shor... |
ORPHA:233 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl... |
ORPHA:1452 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Hypercalcemia, Chronic noninfectious lymphadenopathy, ... |
ORPHA:97289 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexi... |
OMIM:608799 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis |
ORPHA:99879 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| 3C Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology, Chorioretinal colob... |
ORPHA:7 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Pes planus, Hypertriglyceridemia, Synophrys, Broad pal... |
OMIM:182290 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlor... |
OMIM:608328 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse... |
OMIM:618961 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, Delayed cranial suture closure, 1-3 toe synd... |
OMIM:175700 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t... |
ORPHA:198 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Short neck, Split hand, Facial diplegia, Abn... |
OMIM:157900 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Attenuation of retinal blood vessels, Hepatomegaly, Inguinal hernia, Cataract, Rhizomelia, Supern... |
OMIM:614376 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Cataract, Bilateral single transverse palmar creases, Ataxia, Congenital hepat... |
ORPHA:2377 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Ataxia, Kyphoscoliosis, Inability to walk, Splenomegaly,... |
OMIM:616354 |
| Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Limitation of joint mobility, M... |
ORPHA:3449 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness |
ORPHA:2064 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic he... |
ORPHA:94065 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Diffuse hepatic steatosis, Equinovarus def... |
ORPHA:746 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Anemia, Hypophosphate... |
OMIM:239200 |
| Pseudohypoparathyroidism Type 1A |
|
Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo... |
ORPHA:79443 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Glucose intolerance, Fused cervical vertebrae, Short middle phalanx of f... |
OMIM:309620 |
| Pseudohypoparathyroidism Type 1C |
|
Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha... |
ORPHA:79444 |
| Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, I... |
OMIM:258315 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Carious teeth, Hypomagnesemia, Delayed skeletal matur... |
OMIM:244460 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... |
ORPHA:1466 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Postaxial hand... |
OMIM:615630 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, ... |
ORPHA:530983 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Patent ... |
OMIM:609053 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Micrognathia, Optic atrophy, Osteoporosis, Developmental catarac... |
OMIM:600118 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tapered finger, Decrease... |
OMIM:218000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... |
OMIM:259720 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Micrognathia... |
OMIM:130720 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, C... |
ORPHA:3163 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... |
ORPHA:276621 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... |
OMIM:615986 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Al... |
OMIM:277440 |
| Temtamy Syndrome |
|
Aortic regurgitation, Pes planus, Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia len... |
OMIM:218340 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dy... |
OMIM:275900 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... |
OMIM:617994 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital hip dislocation, Prominence of the premaxill... |
ORPHA:2412 |
| Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Splenomegaly, Squared iliac bones, H... |
ORPHA:2746 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, B... |
ORPHA:955 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Gene... |
ORPHA:354 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... |
ORPHA:29072 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Kyphosis, Dental malocclusion, Hip dysplasia, Scoliosis, Hypoplastic iliac... |
ORPHA:1858 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... |
ORPHA:2959 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Epiphyseal dysplasia, Abnormality of nail color, Joint stiff... |
ORPHA:1824 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoglycemia, Micrognathia, Short toe, Abnormality of the elbow, Osteo... |
ORPHA:633 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis,... |
OMIM:617190 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky... |
OMIM:618853 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Glucose intole... |
OMIM:194050 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metopic ridge, Micromelia, Abnormal thum... |
ORPHA:1597 |
| Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Cardiomegaly, Lethargy, Hyperglycemia, Stiff interphalangeal joints, Hepatomegaly, P... |
ORPHA:465508 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Hepatic fibrosis, Hypocalcemia, Sparse ha... |
OMIM:218330 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial o... |
OMIM:122860 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:603671 |
| Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Elevated circulating C-reactive protein concentration, Excessive bleeding afte... |
ORPHA:319213 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda... |
OMIM:618659 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
| Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Delaye... |
ORPHA:2645 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Corneal opacity, Cataract, Tapered finger, Abnormal hair morphology,... |
ORPHA:317 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Sho... |
ORPHA:1914 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Delayed skeletal maturation, Split hand, Flexion contracture, Scolio... |
ORPHA:2850 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Cataract, Ventricular septal defect, Lumbar hyperlordosis, Ectopia lentis, Join... |
OMIM:277600 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Ataxia, Corneal opacity, Micrognathia, Talip... |
OMIM:617183 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestational age... |
ORPHA:79325 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Short ribs, Hypoplas... |
OMIM:173800 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia,... |
OMIM:248370 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Hepatomegaly, Ventricular septal defect, Kyph... |
OMIM:608149 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Short neck, Metaphyseal widening,... |
OMIM:239850 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Hypopl... |
OMIM:602361 |
| Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Synophry... |
OMIM:148820 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Cachexia, Micrognathia, Tapered finger, Short neck, Hypocalcemia |
ORPHA:1438 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon... |
OMIM:114000 |
| Incontinentia Pigmenti |
|
Abnormal hand morphology, Spina bifida occulta, Finger syndactyly, Alopecia, Abnormal chorioretin... |
ORPHA:464 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Ab... |
ORPHA:1798 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Hypocalce... |
OMIM:175500 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Metaphyseal widening, Osteopathia striata, Delay... |
ORPHA:93357 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex... |
ORPHA:776 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndacty... |
OMIM:618914 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Delayed eruption of ... |
ORPHA:94089 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint... |
ORPHA:15 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... |
ORPHA:29073 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Joint stiffness, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, ... |
OMIM:614819 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Optic disc pallor, Inguinal hernia, Thick eyebrow, Ventricular septal defect, ... |
OMIM:618950 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Metaph... |
OMIM:252500 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... |
OMIM:194190 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Pes planus, Toe syndactyly, Hypertriglyceridemia, Fail... |
ORPHA:819 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Long eyelashes, W... |
ORPHA:2863 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Cellulitis, Brachydactyly |
OMIM:266265 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... |
ORPHA:95409 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Epiphyseal dysplasia, Cataract,... |
OMIM:617913 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Intracranial hemorrhage, Ecchymosis, Internal hemorrhage, Leukocytosis, Elevated circu... |
ORPHA:340 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb... |
ORPHA:93262 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Hypermagnesemia, Bone pain, Multiple lipomas, Hypophosphatemia, Panc... |
OMIM:600740 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss... |
OMIM:269250 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Sacral dimple, Ventricular septal defect, Rocker bottom foot, Proxim... |
OMIM:619762 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Retinal dystrophy, Ventricular septal defect, Pancreatic fibrosis, Preax... |
OMIM:263520 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, R... |
OMIM:209900 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Failure to thrive, Hypoglycemia, Hyperc... |
ORPHA:85138 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Absent e... |
ORPHA:166035 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
| Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Persiste... |
ORPHA:97360 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Dysp... |
ORPHA:1724 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal intervertebral disk morphology, Carious teeth, Delayed skeletal matur... |
ORPHA:2701 |
| Jansen-De Vries Syndrome |
|
Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Central diaphr... |
OMIM:617450 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, S... |
OMIM:245600 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171420 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Hypoplasia of the maxilla, Abnormal hair wh... |
OMIM:614261 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Brachydactyly |
ORPHA:2145 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph... |
ORPHA:667 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperopic astigmatism... |
ORPHA:397973 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l... |
ORPHA:508533 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Patchy alopecia, Talipes equi... |
ORPHA:85279 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Neuropathic arthropathy, Decreased number of large peripher... |
OMIM:223900 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Short thumb, Abnormal heart mo... |
ORPHA:401935 |
| Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Absent frontal si... |
OMIM:253250 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accelerated skeletal matura... |
OMIM:602535 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join... |
ORPHA:2107 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Malar prominence, Fused cervical vertebrae, Ab... |
ORPHA:2522 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Delayed skeletal maturation, Abnormal epiphysis morphology, Neutropenia, Enamel hypopla... |
ORPHA:2643 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Thrombocytopenia, Ane... |
OMIM:617475 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Abnormal pupil morphology, Calcaneovalgus... |
ORPHA:261552 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, 2-3 toe syndactyly, Retrognathi... |
ORPHA:485405 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, ... |
ORPHA:436245 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Megalocornea, Hypoplastic ischia, Bowing o... |
ORPHA:313855 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, At... |
ORPHA:96148 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Short neck, Complete atriov... |
OMIM:617925 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Thrombocytopenia, Abnormality of ... |
ORPHA:47 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Micrognathia, Flexion contracture, Glucose intolerance, Sparse hair, Hyperglycemia,... |
OMIM:608612 |
| Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Delayed ... |
ORPHA:2323 |
| Tonne-Kalscheuer Syndrome |
|
Pes planus, Broad-based gait, Congenital diaphragmatic hernia, Micrognathia, Blue irides, Abnorma... |
OMIM:300978 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased calvarial oss... |
OMIM:614592 |
| Caudal Regression Syndrome |
|
Maternal diabetes, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypopla... |
ORPHA:3027 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Mandibular prognathia, Sandal gap, Kyphosis, Small hand, Gait ataxia, S... |
OMIM:300354 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Herni... |
ORPHA:579 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membrane, Sparse hair,... |
OMIM:257850 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert... |
ORPHA:50 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Highly... |
OMIM:620157 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Paraganglioma of head and neck, J... |
ORPHA:653 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Retinal ... |
OMIM:221900 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Mitral valve prola... |
OMIM:601216 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... |
ORPHA:3035 |
| Trisomy 20P |
|
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
| Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum,... |
OMIM:619143 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Low posterior hairline, Fused cervical vertebrae, Pseudopapilledema, Le... |
ORPHA:3456 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Splenomegaly, Foot oligodactyly, Truncus arteriosus, Brach... |
OMIM:616589 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia,... |
OMIM:235255 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosi... |
OMIM:214300 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Nail dystrophy, Camptodactyly |
OMIM:246560 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Brittle hair, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Shor... |
OMIM:619184 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abn... |
ORPHA:2180 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Increased circulating m... |
ORPHA:36234 |
| Larsen Syndrome |
|
Finger syndactyly, Short nail, Craniosynostosis, Large joint dislocations, Accessory carpal bones... |
ORPHA:503 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, Hypocalcemia, Hypop... |
ORPHA:89937 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis... |
ORPHA:2655 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... |
ORPHA:26792 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Arach... |
ORPHA:2462 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Hepatoblastoma, Prox... |
OMIM:304050 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck... |
OMIM:613686 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Short neck, Multip... |
ORPHA:163654 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Coarse meta... |
ORPHA:1782 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Corneal opacity, Single transverse palmar crease, Congenital diaphra... |
ORPHA:2409 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Clinodactyly of the 5th finger, Bilateral single transverse palmar crea... |
ORPHA:488642 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Ataxia, Joint hypermobility, Hypoplasia of... |
ORPHA:481152 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... |
OMIM:122600 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Kyphoscoliosis, Micrognathia, Atrial septal defect, Clinodactyly, Retrognathia, Br... |
OMIM:617808 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Diamond-Blackfan Anemia 21 |
|
Micrognathia, Secundum atrial septal defect, Synophrys, Coarse hair, Tapered finger, Short toe, O... |
OMIM:620072 |
| Adams-Oliver Syndrome |
|
Leukopenia, Sparse hair, Finger syndactyly, Alopecia, Portal hypertension, Congenital hepatic fib... |
ORPHA:974 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Single transverse palmar crease, Muscular ventricular septal defect, Adducted thumb |
OMIM:620062 |
| Sotos Syndrome |
|
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Pedal edema, Atrial... |
ORPHA:821 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti... |
OMIM:617895 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Sandal gap, Delayed... |
OMIM:614607 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Supernumerary tooth, Sparse hair, U... |
ORPHA:1264 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Arthrogrypos... |
OMIM:618265 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Cranial hyper... |
ORPHA:2801 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal... |
ORPHA:36913 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Osteoporosis, Bone pain, Weight ... |
ORPHA:143 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Tapered finger, Flat acetabular roof, Fused cervical ve... |
OMIM:617159 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnormal ... |
ORPHA:3219 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop... |
ORPHA:496790 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnorm... |
ORPHA:1005 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hypoglycemic se... |
OMIM:616364 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Micromelia, Cardiomegaly, Wide distal femoral m... |
OMIM:613320 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ... |
ORPHA:254886 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Chops Syndrome |
|
Curly hair, Cataract, Ventricular septal defect, Thick hair, Splenomegaly, Synophrys, Optic atrop... |
OMIM:616368 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... |
ORPHA:1529 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... |
OMIM:615994 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Increased bone mineral density, Small for gestational ag... |
OMIM:127000 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar creas... |
OMIM:617061 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Wormian bones, Short femur, Fractured radius, Ventricular septal defect, Small for ge... |
OMIM:616897 |
| Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Delayed skeletal maturation, Small hand, Short foot, Hyperph... |
OMIM:241410 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Short foot, ... |
OMIM:300534 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Optic atrophy, Spastic gait, Upper limb amyotrophy, Abnormal circulating cholesterol co... |
OMIM:270800 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Hernia, Clinodactyly of the 5... |
ORPHA:3306 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachnoda... |
ORPHA:567 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, Lumbar hemivertebrae, Abnormal b... |
ORPHA:2463 |
| Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Short metacarpal, Small h... |
ORPHA:2980 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
| Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Fo... |
ORPHA:314795 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Osteoporosis, Bone pain, Hypopho... |
ORPHA:99880 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret... |
ORPHA:209959 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypoplasia of the maxilla, Atrial septal de... |
ORPHA:261295 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Vaginal hernia, Cataract, Micrognathia, Hypertrophic cardiomyopathy, Broad thumb |
ORPHA:3173 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Ga... |
ORPHA:272 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... |
ORPHA:37553 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Trism... |
OMIM:227330 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Low anterior hairline, Leukopen... |
OMIM:617303 |
| Cantú Syndrome |
|
Cardiomegaly, Short neck, Accelerated skeletal maturation, Low anterior hairline, Generalized hir... |
ORPHA:1517 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypopl... |
OMIM:614813 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Synophrys, Delayed ske... |
OMIM:148050 |
| Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Mitral valve prolapse, Mitral regurgitation, Short palm, F... |
ORPHA:3238 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Dislo... |
OMIM:182212 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Congenital diaphragmatic hernia, Highly a... |
OMIM:300887 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Mandibular prognathia, Optic atrophy, Genu valgum, Patellar subluxation, Astigmatism |
OMIM:248000 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Pancreatitis, Chondrocalcinosis |
OMIM:145981 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Infantile Refsum Disease |
|
Hepatomegaly, Failure to thrive, Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulat... |
ORPHA:772 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Scoliosis, Loss of a... |
OMIM:618241 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Cu... |
OMIM:272440 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ... |
OMIM:618143 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated cir... |
OMIM:612852 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Conjugated hy... |
OMIM:614866 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Cranial nerve compression, Reduced bone mineral density, Multiple lip... |
ORPHA:652 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, S... |
ORPHA:289176 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa... |
OMIM:224690 |
| Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171300 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Decreased/absent ankle reflexes, Optic atrophy, Cardiomyopathy, ... |
ORPHA:1177 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
| Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Conjunctival hypere... |
ORPHA:509 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Coxa valga... |
OMIM:614753 |
| Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Th... |
ORPHA:2905 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Sparse scalp hair, Bilateral single transverse palmar creases, Talipes, Avascu... |
ORPHA:502 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Bicuspid aortic valve, Micrognathia, Mesom... |
OMIM:618529 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly... |
OMIM:618048 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Mitral valve prolapse, Hypocalcemia, Short distal phalanx of finger, Generalized hirsut... |
ORPHA:1563 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Neoplasm of t... |
ORPHA:97261 |
| Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... |
ORPHA:828 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi... |
OMIM:612813 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... |
ORPHA:96097 |
| Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... |
OMIM:252100 |
| Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat... |
OMIM:265800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... |
OMIM:608836 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Micrognathia, Short neck, Splenomegaly,... |
ORPHA:1655 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Sandal gap, Brachydactyly |
OMIM:616459 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Inability to walk, Optic atrophy, Talipes equinovarus, Scoliosis, Joint contracture |
OMIM:617481 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Low anter... |
OMIM:617137 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneou... |
OMIM:600920 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Clinodactyly, Cutan... |
OMIM:615546 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
| Cockayne Syndrome |
|
Dry hair, Congenital contracture, Retinal arteriolar constriction, Progressive gait ataxia, Lenti... |
ORPHA:191 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Alopecia, Diabetes mellitus, Cardiomegaly, Increased circulating ferri... |
OMIM:235200 |
| Classic Homocystinuria |
|
Pulmonary embolism, Intracranial hemorrhage, Hernia, Hepatomegaly, Arachnodactyly, Osteoporosis, ... |
ORPHA:394 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndac... |
OMIM:618162 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Tracheoma... |
OMIM:601390 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Optic disc colo... |
OMIM:600092 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Hepatomegaly, Ataxia, Corneal opacity, Ca... |
ORPHA:93400 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Inguinal hernia, Arachnodactyly, Joint stiffness, Optic atrophy, Deviation of finger, Bilateral t... |
ORPHA:1154 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hemolytic anemia, Alope... |
ORPHA:797 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Hypo... |
OMIM:180849 |
| Radio-Tartaglia Syndrome |
|
Pes planus, Thick eyebrow, Ventricular septal defect, Ataxia, Highly arched eyebrow, Micrognathia... |
OMIM:619312 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Obesity, Subvalvular... |
OMIM:600430 |
| Lowry-Wood Syndrome |
|
Small for gestational age, Squared iliac bones, Elbow flexion contracture, Hip dislocation, Multi... |
OMIM:226960 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... |
ORPHA:230 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Obesity, Patellar hypoplasia, Coloboma, Retrognathia, Brachy... |
ORPHA:464288 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Knee dislocation, Clinodactyly of the 5t... |
OMIM:620083 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Coxa valga, Thoracolumbar kyphosis, Splenomegaly, Joint stiffness, Optic at... |
OMIM:230600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Long foot, Slen... |
OMIM:300676 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97282 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... |
ORPHA:710 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Corneal... |
ORPHA:1101 |
| Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Glucose intolerance, Hyperglycemia, Megalocornea, Joint laxity,... |
OMIM:269880 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Splenomegaly, Pulmonic stenosis, Right ventricular hy... |
OMIM:616028 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop... |
ORPHA:2662 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Cataract, Ataxia, Coxa valga, Micrognathia, Op... |
OMIM:619833 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Single transverse palmar crease, Eosinophilia, Coxa ... |
OMIM:617425 |
| Trisomy 13 |
|
Cataract, Ventricular septal defect, Abnormal retinal vascular morphology, Abnormal eyelash morph... |
ORPHA:3378 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Cataract, Sandal gap, Broad hallux, Persistence of primary teeth, Scarring alopeci... |
OMIM:618727 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Gait disturbance |
ORPHA:88619 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Atrial... |
ORPHA:93274 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Tricuspid regurgitation, Ataxia, Tapered finger, Inability to walk, Optic ... |
OMIM:619576 |
| Frontorhiny |
|
Pericallosal lipoma, Cataract, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the m... |
ORPHA:391474 |
| Dpm1-Cdg |
|
Hepatic steatosis, Hepatomegaly, Sandal gap, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Sparse eyelashes, Craniosynos... |
OMIM:250410 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Vertebral clefting... |
OMIM:614701 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Bowing of the legs,... |
OMIM:300554 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... |
OMIM:228520 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus... |
ORPHA:1794 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Synophrys, Abnormal form ... |
ORPHA:2162 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia, Long eyelashes |
ORPHA:163693 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... |
OMIM:620099 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... |
OMIM:615503 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre... |
ORPHA:268 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Down Syndrome |
|
Joint laxity, Cataract, Aganglionic megacolon, Sandal gap, Bilateral single transverse palmar cre... |
ORPHA:870 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Sparse scalp hair, Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Joint h... |
ORPHA:2824 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Pes planus, Single transverse p... |
OMIM:123450 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Cataract, Ventricular septal defect, Optic nerve hypoplasi... |
OMIM:206900 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Inguinal hernia, Short neck, Hyperlordosis, Abnormal form of the vertebral bo... |
ORPHA:3218 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Craniosynostosis, ... |
ORPHA:178303 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormal hair pattern, Cari... |
ORPHA:1786 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to... |
ORPHA:783 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Failure to thrive, Craniosynostosis, Accelerated skeletal maturation, O... |
ORPHA:561 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Microcornea, P... |
ORPHA:313781 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
| Kabuki Syndrome 2 |
|
Joint laxity, Atrial septal defect, Natal tooth, Highly arched eyebrow, Micrognathia, Hip disloca... |
OMIM:300867 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterior hairline... |
ORPHA:363705 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia... |
ORPHA:448237 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Patchy reduction... |
ORPHA:221120 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circu... |
OMIM:266500 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Overlapping toe, Delayed cranial suture closure, Inability to walk, Delayed skeleta... |
OMIM:619383 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Cataract, Joint stiffness, Sparse eyebrow, Inab... |
OMIM:617988 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Broad hallux, Highly arched eyebrow, Micrognathia, Microcytic anemia, Marked del... |
ORPHA:293967 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss, Hema... |
ORPHA:913 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Short digit, Microretrognathia, Proximal placement of thumb, Talipes equi... |
OMIM:615789 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Femoral hernia, Join... |
ORPHA:2588 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Failure to thrive, Long fingers, Flexion contracture, Optic atrophy, Talipes equinovarus, Arthrog... |
OMIM:601110 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioventricular block, Abnormal form ... |
ORPHA:581 |
| 46,Xy Sex Reversal 4 |
|
Micrognathia, Elevated circulating creatinine concentration, Distal symphalangism, Increased bloo... |
OMIM:154230 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia, Thick hair, Micrognathia, Synophrys, Hypertrichosis, Hip dysplasia, Long ... |
OMIM:618381 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Pancreati... |
OMIM:602782 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Metatarsus adductus, Hypoplasia of the maxilla, Tip-toe gait, Clinodactyly, Patent for... |
ORPHA:293939 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Car... |
ORPHA:79312 |
| Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, Pi... |
ORPHA:228346 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abn... |
ORPHA:324410 |
| Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, Clinodac... |
ORPHA:251028 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved eyebrow, Atrial ... |
OMIM:300166 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Short neck, Low anterior hairline, Atrial sep... |
OMIM:601808 |
| Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Pes planus, Alopecia, Single transverse palmar crease, Mic... |
OMIM:613075 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Short ... |
ORPHA:2176 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating cr... |
OMIM:614576 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low ant... |
OMIM:617796 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hip d... |
OMIM:109120 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Bone pain, Rickets, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Dec... |
OMIM:614886 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... |
ORPHA:97283 |
| Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Abnormal hair morphology, Kyphosis, A... |
ORPHA:324737 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy... |
OMIM:614800 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Facial hypertrichosis, Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, ... |
ORPHA:397709 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Intrahepatic ... |
ORPHA:97278 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Umbilical her... |
ORPHA:1770 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Hyperglycemia, Patent foramen ovale, Abnormal vertebral morphology, High... |
ORPHA:444077 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Joint laxity, Ven... |
OMIM:615673 |
| Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Micrognathia, Inability to walk, Flexion contracture, Optic atrophy, Lo... |
OMIM:614222 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Abdominal situs inversus, Pulmonic s... |
OMIM:619123 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, ... |
OMIM:212750 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Hypoplasia of the maxilla, Abnormal foot morphology, Low anterior hairline, Coarse ... |
ORPHA:2095 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked p... |
OMIM:619260 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... |
OMIM:614877 |
| Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Cli... |
ORPHA:1507 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Congenital... |
ORPHA:1001 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Optic atrophy, ... |
OMIM:615236 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Atrial septal defect, Ventricular ... |
ORPHA:163979 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... |
ORPHA:95699 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Shuffling gait, Short distal phalanx of finger |
OMIM:300266 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Short n... |
ORPHA:818 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Micrognathia, Short neck, Flexion contracture, Acanthocytosis, Scoliosis, Hand... |
OMIM:618947 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Elevated circulating C-reactive protein concentration, Elevated... |
ORPHA:49041 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Low posterior hairline, Hypert... |
ORPHA:1598 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone... |
ORPHA:79474 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Cranial nerve compression, Leuk... |
ORPHA:2785 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Premature graying of hair, Intestinal bleeding, Sparse hair, ... |
OMIM:612199 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Spa... |
ORPHA:1775 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange... |
OMIM:216400 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... |
OMIM:618150 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria, Abnor... |
ORPHA:93399 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early ossification ... |
ORPHA:397715 |
| Alpha-Mannosidosis |
|
Arthritis, Delayed skeletal maturation, Avascular necrosis, Synostosis of joints |
ORPHA:61 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, ... |
ORPHA:93325 |
| Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynostosis, C... |
OMIM:618027 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Micrognathia, Sparse eyebrow, Ectopia lentis, Ost... |
ORPHA:560 |
| Rin2 Syndrome |
|
Pes planus, Sparse scalp hair, Joint hypermobility, Increased susceptibility to fractures, Scolio... |
ORPHA:217335 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Micromelia, Delayed skeletal maturation, Coxa vara, Fine hair, Anemia, Narr... |
ORPHA:2637 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Inguinal hernia, Abnormal mitral valve morphology, Delayed skeletal maturat... |
ORPHA:1292 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Ventricular septal defect, Megaloblastic an... |
ORPHA:49827 |
| Incontinentia Pigmenti |
|
Hemivertebrae, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fovea, Alop... |
OMIM:308300 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Axona... |
ORPHA:404454 |
| Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Abnormal pupil m... |
ORPHA:236 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Loss of ambulation, Ulnar deviation of the hand or... |
OMIM:214100 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange... |
OMIM:133540 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Thick hair, Delayed closure of the an... |
ORPHA:357074 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Short neck, Retrognathia, Drumstick terminal phalanges, Umbilical hern... |
OMIM:612938 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... |
OMIM:619142 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,... |
ORPHA:3078 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... |
ORPHA:97280 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Gait disturbance, Chorioretinal co... |
ORPHA:163937 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Abnormal fo... |
ORPHA:280 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Facial palsy, R... |
OMIM:611490 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Limb ataxia, Mit... |
OMIM:258450 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand... |
OMIM:214800 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Atrial s... |
OMIM:613458 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Short neck, Atrial septal defect, Sparse hair, Patent foramen ovale, J... |
OMIM:613610 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopathia striata, S... |
OMIM:305600 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of to... |
ORPHA:1318 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Multiple suture craniosynos... |
ORPHA:207 |
| Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Long eyelashes, Hypocalcemia, Failure to thrive, Neonatal hypoglycemia |
OMIM:606407 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Abnormal mes... |
ORPHA:2075 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Short neck, Cortical thickening of long bone diaphyses, Hypopl... |
ORPHA:309282 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Abn... |
OMIM:309900 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Hepatomegaly, Elevated circulating creatine kinase concentration, Micrognathia, Optic... |
ORPHA:329178 |
| 2P15P16.1 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Prominent metopic ridge, Facial palsy, Tapered finger... |
ORPHA:261349 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia, Arrhythmia |
ORPHA:2238 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo... |
OMIM:166210 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... |
OMIM:157800 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebra... |
OMIM:118100 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,... |
OMIM:616331 |
| Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tapered finger, Flexion contracture, Optic atrophy, Dysmetr... |
OMIM:616505 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Carcinoid tumor, Subcutan... |
OMIM:131100 |
| Liver Disease, Severe Congenital |
|
Dry hair, Micrognathia, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Le... |
OMIM:619991 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... |
OMIM:613848 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Sparse a... |
ORPHA:2136 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Sparse eyebrow, Hypoplasia of the maxilla, Widow's peak, Coloboma, Clinodacty... |
OMIM:167730 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventric... |
OMIM:616894 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Epiphyseal dysplasia, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t... |
ORPHA:420794 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Brachydactyly, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carrying an... |
OMIM:247410 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Areflexia of upper limbs, Cranial ... |
ORPHA:268882 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Corneal dystrophy, Hypertension, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Ro... |
OMIM:617763 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Highly arched eyebrow, Ta... |
OMIM:609460 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Retinal degen... |
ORPHA:90324 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum |
ORPHA:1295 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompactio... |
ORPHA:508542 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... |
ORPHA:790 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Hernia, Thoracic ky... |
ORPHA:505248 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Micrognathia, Hypoplasia of the maxilla, Abnormal heart morpholog... |
ORPHA:314679 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Bicoronal synostosis, Brachydactyly |
OMIM:604757 |
| Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Sandal gap, Malar prominenc... |
ORPHA:2715 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Elev... |
OMIM:274150 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Congenital diaphragm... |
OMIM:200980 |
| Mgat2-Cdg |
|
Osteopenia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Ventri... |
ORPHA:79329 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Short palm, Patent foramen ovale, Hepatomegaly, Short toe, Short ... |
OMIM:269860 |
| Craniofacioskeletal Syndrome |
|
Pes planus, Atrial septal defect, Absent gallbladder, Ventricular septal defect, Micrognathia, Hy... |
OMIM:300712 |
| Dent Disease 1 |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Chorioretinal coloboma, Clin... |
OMIM:280000 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Insulinoma, Fasting hyperinsulinemia, Increased glucagon level, Pulmonary carcinoi... |
ORPHA:276152 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Joint stiffness, Abnormali... |
ORPHA:245 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Optic neuropathy, Kyphoscoliosis, Delayed skeletal maturation, Clinodactyly of... |
OMIM:620237 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Sparse eyebrow, Abnormal eyelash morphology, Widow... |
ORPHA:2399 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Short neck, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Arrhythmia... |
ORPHA:254913 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi... |
OMIM:261540 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Lumbar hyperlordosis, Optic nerve hy... |
ORPHA:370959 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Craniosynostosis, Optic atrophy, Atrial septal defe... |
ORPHA:457193 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Atax... |
OMIM:249270 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Optic atrophy... |
OMIM:618493 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr... |
ORPHA:411634 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Cardiomyopathy, Abnormal cardi... |
OMIM:217980 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypopl... |
OMIM:260660 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Decreased nerve co... |
OMIM:615368 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, 2-3 toe syndac... |
OMIM:617516 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... |
ORPHA:1305 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Del... |
OMIM:218400 |
| Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Missing ribs, Abnormal eyelash mor... |
OMIM:147791 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Po... |
ORPHA:50814 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoa... |
ORPHA:27 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ... |
ORPHA:2750 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp... |
ORPHA:570 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Optic atrophy, Abnormal heart morphology, Hip dysplasia,... |
ORPHA:494344 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e... |
OMIM:164745 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Highly arched eyebrow, Micro... |
ORPHA:2083 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal bleeding, Acute myeloid leukemia, Anemia of ... |
ORPHA:86839 |
| Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Abnormal form of the ver... |
ORPHA:1590 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Thick hair, Micrognathia, Generalized joint laxity, Delayed skeletal maturatio... |
ORPHA:502423 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Severe generalized osteoporosis, Micrognathia, Kyphoscoliosis, Delayed ... |
OMIM:210730 |
| Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Facial dipl... |
OMIM:617302 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus... |
OMIM:619995 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphr... |
OMIM:304110 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
| Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Atrial septal defect, Malar flatten... |
OMIM:241310 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Bro... |
ORPHA:171866 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart... |
ORPHA:247353 |
| Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Thromboc... |
OMIM:620370 |
| Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulating creatine... |
OMIM:610377 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Arthritis, Conjun... |
ORPHA:575 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Coloboma, Clinodactyly of the 5th finger, Hypopigmentation of the fundus, ... |
OMIM:200990 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:612474 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Flexion contracture, Optic atrop... |
OMIM:617301 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Small for gestational age, Delayed closure of the a... |
ORPHA:96182 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cataract, Hypoplasia of the maxilla, Synophrys,... |
OMIM:211380 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Reduced bone mineral density, Slender long bone, Coarse hair, Joi... |
ORPHA:1185 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... |
OMIM:614643 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612926 |
| 7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemiv... |
ORPHA:96121 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Inability to walk, Kyphosis, Flexion contracture, Optic atrophy, Absent Achill... |
OMIM:609541 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint... |
OMIM:613658 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Short prox... |
ORPHA:261323 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Weight loss, Abnormal lymphatic vessel morphology, Red... |
ORPHA:90362 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Mic... |
OMIM:259775 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli... |
OMIM:601358 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612925 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Osteomyelitis, Cachexia, Aut... |
ORPHA:37042 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnorma... |
ORPHA:31824 |
| Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypovolem... |
ORPHA:173 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Ankle clonu... |
ORPHA:565624 |
| Gapo Syndrome |
|
Keratoconus, Mandibular prognathia, Alopecia, Delayed eruption of teeth, Sparse eyelashes, Microg... |
ORPHA:2067 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, 2-3 finger synd... |
OMIM:269500 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Synophrys, Optic atrophy, Thick eyebrow |
OMIM:618737 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Sparse axillary hair, Aplasia/Hypoplasia of the p... |
OMIM:613803 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612924 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short neck, Optic atrophy, Short metatarsal, Cone-shaped epiphysis,... |
OMIM:613328 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Promi... |
ORPHA:97297 |
| Prader-Willi Syndrome Due To Translocation |
|
Pes planus, Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Micrognathia, Short... |
ORPHA:177907 |
| Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, High... |
OMIM:608156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect,... |
OMIM:309520 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... |
ORPHA:57777 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Single ... |
ORPHA:83617 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Noonan Syndrome |
|
Abnormal bleeding, Abnormal hair quantity, Hepatomegaly, Abnormal pulmonary valve morphology, Mic... |
ORPHA:648 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Down Syndrome |
|
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... |
OMIM:190685 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea... |
ORPHA:1606 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Abnormal femur morphology, A... |
ORPHA:324 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Bone cyst, Deep palmar crease, Brachydactyly |
ORPHA:1752 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Supernumerary nipple, Delayed s... |
ORPHA:3255 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific... |
ORPHA:51608 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... |
ORPHA:99845 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Cataract, Megaloblastic anemia, Optic atrophy, L... |
OMIM:222300 |
| Tarp Syndrome |
|
Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... |
OMIM:311900 |
| Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Clinodactyl... |
OMIM:300373 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Optic atrophy, Reduced bone mineral density, Hyperphosphatemi... |
ORPHA:428 |
| Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the hand, Abnormal finger morphology, Palmoplan... |
ORPHA:3194 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Pes planus, Decreased distal sensory nerve action potent... |
ORPHA:99956 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... |
OMIM:613805 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Iris atrophy, Osteoporosis, Increased susceptibi... |
OMIM:259770 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Thick eyebrow, Hepatomegaly, Corneal o... |
ORPHA:585 |
| Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Retinal degeneration, Papi... |
ORPHA:580 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Highly arc... |
OMIM:616737 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Stiff neck, Microgn... |
OMIM:617022 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Broad hallux, Single transverse palmar crease, Ataxia, Micrognathia, Highly arch... |
OMIM:617062 |
| Distal Deletion 19P |
|
Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Ventricular septal defect, Hypoplasia of the ... |
ORPHA:96129 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Pu... |
ORPHA:94093 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Ataxia, Corne... |
ORPHA:1764 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Inability to walk, Flexion contra... |
OMIM:618651 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Persistence of primary teeth... |
OMIM:610253 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse... |
OMIM:244450 |
| Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of the fundus, Palmo... |
OMIM:615108 |
| Velocardiofacial Syndrome |
|
Inguinal hernia, Posterior embryotoxon, Ventricular septal defect, Talipes, Abnormality of the ha... |
OMIM:192430 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Retrognathia, Low posterior hairline, Fused cervical vertebra... |
OMIM:619227 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cataract, Rocker bottom foot, Tapered finger, Finger clinodactyly, Long eyelashes, Scoliosis, Cam... |
OMIM:601353 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Preaxial polydactyly, Low anterior hairline, Coxa va... |
OMIM:614976 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Abnormal foot ... |
ORPHA:95 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Decreased serum iron, Pul... |
ORPHA:447 |
| Zttk Syndrome |
|
Aortic regurgitation, Curly hair, Absent gallbladder, Ventricular septal defect, Joint hypermobil... |
OMIM:617140 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ... |
ORPHA:909 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Shor... |
OMIM:271520 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Kyphosis, Hypertrichosis, Contracture of the proximal interphalange... |
OMIM:618050 |
| Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
| Dpagt1-Cdg |
|
Flexion contracture, Intracranial hemorrhage, Diffuse optic disc pallor, Hepatomegaly, Arachnodac... |
ORPHA:86309 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Pericardia... |
OMIM:619487 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Highly arched eyebrow, Micrognathia, Central Y-shaped ... |
ORPHA:2754 |
| Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, Macular ... |
ORPHA:3132 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Reduced bone mineral density, Knee fle... |
OMIM:259050 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... |
OMIM:614653 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Small for gestational age, Hypoplasia of the maxilla, Synophrys, Broad eyebrow |
OMIM:618302 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,... |
OMIM:619539 |
| Adnp Syndrome |
|
Joint laxity, Sparse scalp hair, Inguinal hernia, Juvenile cataract, Broad hallux, Single transve... |
ORPHA:404448 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... |
OMIM:607115 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Optic atrophy, Joint hyperflexibil... |
ORPHA:60040 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form... |
ORPHA:2021 |
| Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of the fundus, Palmo... |
OMIM:615109 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Hypoplasia o... |
OMIM:106260 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Knee flexion contracture, Atrial septal defect,... |
OMIM:617402 |
| Carey-Fineman-Ziter Syndrome |
|
Facial palsy, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Ta... |
ORPHA:1358 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Congenital diaphragmati... |
OMIM:122470 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Short neck, Synophrys, Obesity, Facial hirsutism, Cubitus valgus,... |
ORPHA:247768 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
| Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Failure to thrive, Extramedullary hematopoiesis, Single tran... |
ORPHA:2886 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Atrial septal defect, Clinodactyly of the 5th... |
OMIM:136140 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... |
OMIM:177850 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Low anterior hairline, Optic atrophy, Dystonic gait, Astigmatism, Scoliosis, Promin... |
ORPHA:480898 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Ataxia, Morning glory anomaly, Postaxial polydactyly, Highly arched ey... |
OMIM:614424 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo... |
ORPHA:3107 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Hypoplasia... |
OMIM:129400 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Conjunctivitis, Atrial septal defect, Spars... |
OMIM:616268 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Pericardial effusion, Hematochezia, Coloboma, H... |
OMIM:618183 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity... |
OMIM:253800 |
| Cenani-Lenz Syndrome |
|
Elbow dislocation, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Synostosis of ca... |
ORPHA:3258 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Pes cavus, Proportionate shortening of all digits, Elevated circulating alpha-... |
ORPHA:280633 |
| Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Angioid streaks of the fundus, Palmo... |
OMIM:158350 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight |
ORPHA:93950 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Patellar a... |
OMIM:613804 |
| Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Pes planus, Joint laxity, Brittle hair, Delayed eruption of teeth, Delayed closure of... |
OMIM:607812 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Sparse hair, Atrial septal defect, Dystrophic fingernails, Abnormal mor... |
ORPHA:1340 |
| Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Blue irides, Obesity,... |
OMIM:105830 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Cataract, Short neck, Conjugated hyperbilirubinemia, Jaundi... |
ORPHA:168577 |
| Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Optic atr... |
OMIM:123500 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Ataxia, Small for gestational age, Hiatus hernia, Micrognathia, Optic atrophy, Hypoplas... |
OMIM:251300 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Cono... |
ORPHA:2306 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy... |
OMIM:612674 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Post... |
ORPHA:2473 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal defect, Malar f... |
ORPHA:79113 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Short neck, Synophrys, Congenital contracture, Retrognathia, Brachydactyly |
OMIM:620156 |
| Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Coronary artery stenosis, Brachydactyly |
OMIM:602531 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu... |
ORPHA:500095 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Pericarditis, Delayed cranial suture closure, Tapered f... |
OMIM:601088 |
| Hereditary Renal Hypouricemia |
|
Back pain, Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Ankle ... |
OMIM:213700 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Highly arched eyebrow, Hi... |
OMIM:265050 |
| 15q26 overgrowth syndrome |
|
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper... |
DECIPHER:81 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Failure... |
OMIM:615085 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... |
ORPHA:158687 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... |
OMIM:615688 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Ga... |
OMIM:229300 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Synophrys, Hypoplas... |
ORPHA:3455 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Hepatomegaly, Limited elbow movement, Limited wrist movement, Short foot, L... |
OMIM:617809 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Atrial septal defe... |
OMIM:268300 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Highly arched eyebrow, Absent eyelashes, Hypoplasia o... |
ORPHA:228396 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Ventricular septa... |
ORPHA:464311 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Corneal opacity, Delayed peripheral myelination, Aplasia of the distal p... |
ORPHA:364577 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n... |
ORPHA:33226 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Fair hair, Hepatomegaly, Thoracic scoliosis, Cardi... |
ORPHA:79330 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... |
ORPHA:3015 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Structural foot deformity, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:464306 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... |
OMIM:620366 |
| 7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Delayed skeletal maturation, Clinodactyly of the... |
ORPHA:251061 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Aortic regurgitation, Pancytopenia, Ataxia, Corneal opacity, Catar... |
ORPHA:309288 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t... |
OMIM:613195 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Hypoalbumin... |
OMIM:610965 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Thoracic scoliosis, Recurrent fractures, Optic atrophy, Long eyelashes, Hand clench... |
OMIM:606056 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Micrognathia, Missing ribs, Optic... |
ORPHA:3301 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathi... |
OMIM:616367 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase concentration, Micrognat... |
ORPHA:496641 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Small for gestational age, Craniosynostosis, Tapered finger, Micrognathia, Delay... |
OMIM:309590 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Elbow dislocation, Aplastic clavicle, De... |
ORPHA:2554 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Atrial septal def... |
ORPHA:2044 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Ventricular septal defect, Si... |
OMIM:614947 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Retinal arteriol... |
OMIM:611773 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Double outlet right v... |
ORPHA:2209 |
| Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Flexion contracture, Optic atrophy, Low anterior hairline, Development... |
OMIM:614225 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Optic neuropathy, Increased i... |
OMIM:619727 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Pancreatic cysts, Carious teeth, Supernumerary... |
OMIM:311200 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Single transverse palmar cr... |
ORPHA:521426 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Atrial septal defect, Clinodactyly of the 5th finger, Patent fo... |
OMIM:607872 |
| Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Joint laxity... |
OMIM:610168 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Broad-based gait, Sandal gap, Optic nerve hypoplasia, Ventri... |
OMIM:620330 |
| Meester-Loeys Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Hypertrichosis, Mitral valve prolapse, Cervical sp... |
OMIM:300989 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypopla... |
ORPHA:306542 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Pes planus, Inguinal hernia, Arachnodactyly, Transient ischemic attack, Sub... |
ORPHA:91387 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Synostosis of joints |
ORPHA:1234 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
| Cowden Syndrome |
|
Brachydactyly, Cataract, Ataxia, Enlarged polycystic ovaries, Kyphosis, Bone cyst, Palmoplantar k... |
ORPHA:201 |
| Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Microcornea, Clinodactyly of the ... |
ORPHA:709 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Micrognathia, Lower limb asymm... |
ORPHA:2135 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Abnormal heart morphology, Mic... |
OMIM:601499 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Joi... |
OMIM:609069 |
| Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Osteomyelitis, Ataxia, Abnormal proportion of CD8-positive T cells... |
ORPHA:443811 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Intracranial hemorrhage, Anisocoria... |
OMIM:613406 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
| Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Elbow flexion ... |
OMIM:619777 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Ataxia, Elevate... |
OMIM:616878 |
| Digeorge Syndrome |
|
Sclerocornea, Micrognathia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, H... |
OMIM:188400 |
| Charge Syndrome |
|
Delayed eruption of teeth, Facial palsy, Talipes, Highly arched eyebrow, Abnormal tibia morpholog... |
ORPHA:138 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Delayed skeletal maturation, Obesity, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemi... |
OMIM:608624 |
| Gapo Syndrome |
|
Micrognathia, Eruption failure, Sparse hair, Megalocornea, Keratoconus, Hepatomegaly, Alopecia, F... |
OMIM:230740 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le... |
ORPHA:79282 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Mandibular prognathia, Single transverse palmar crease, Co... |
OMIM:619297 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... |
OMIM:192315 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... |
ORPHA:31826 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit... |
ORPHA:1780 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Decreased ... |
OMIM:616462 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula... |
OMIM:163950 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position... |
ORPHA:363958 |
| Treacher-Collins Syndrome |
|
Cataract, Abnormal dental enamel morphology, Micrognathia, Absent eyelashes, Abnormal hair morpho... |
ORPHA:861 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, ... |
ORPHA:847 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Optic atrophy, A... |
OMIM:612301 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Fasting hypoglycemia |
ORPHA:25 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Toe extensor amyotrophy, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis... |
ORPHA:157850 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Frontal balding, Decreased body weight |
ORPHA:93945 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Papilledema, Hep... |
ORPHA:2072 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Lipodystrophy, Sparse eyelashes,... |
OMIM:209885 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Su... |
ORPHA:137675 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Distal Deletion 9P |
|
Hernia, Brachydactyly |
ORPHA:1642 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Absent gallbladder, Lumbar hyperl... |
ORPHA:500150 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait a... |
OMIM:619259 |
| Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, A... |
OMIM:243800 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Sacral dimple, Short neck, Optic disc coloboma, Short metatarsal, Obesity, Retr... |
OMIM:617157 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Retinal dystrophy, Short nail, Duplication of distal phalanx of... |
ORPHA:324540 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral tal... |
OMIM:619708 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Postaxial polydactyly, Postaxial hand polydactyly, Preaxial fo... |
OMIM:619471 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Highly arched eyeb... |
ORPHA:487796 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Sparse eyebrow, Short neck, Cardiomyopathy, Abnormal cardiac... |
ORPHA:3338 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Thrombocytopenia, H... |
ORPHA:544482 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Ataxia, Posterior cortical cataract, Anterior cortical c... |
ORPHA:67036 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Heart block,... |
ORPHA:416 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Mi... |
ORPHA:672 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... |
ORPHA:2753 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal h... |
ORPHA:920 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Papilledema, Prominent metopic ridge, Mandibular prognathia, Broad hallux, Delayed... |
OMIM:614188 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Tibial bowing, Hepatoblastoma, Myeloid leukemia, Sclerosis of skull bas... |
ORPHA:798 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... |
ORPHA:1974 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Optic ... |
OMIM:268315 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Highly arched ey... |
ORPHA:1519 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Short neck, Clinodact... |
ORPHA:1587 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short metacarpal, Long eyebrows, Widow's peak, Optic atrophy... |
OMIM:201180 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentrat... |
ORPHA:466650 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Ataxia, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Congestive heart failu... |
OMIM:615512 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Retinal dystrophy, Single transverse palmar... |
OMIM:607932 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Supernumerary toot... |
OMIM:617088 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Ventri... |
OMIM:606170 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Norrie Disease |
|
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
| Trichinellosis |
|
Facial palsy, Trismus, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal... |
ORPHA:863 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Talipes,... |
ORPHA:564 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Prominent metopic ridge, Neonatal insulin-dependent diabetes mellit... |
ORPHA:99885 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Rift Valley Fever |
|
Abnormal bleeding, Back pain, Retinitis, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrh... |
ORPHA:319251 |
| Doors Syndrome |
|
Abnormal finger morphology, Low anterior hairline, Hemivertebrae, Triphalangeal thumb, Clinodacty... |
ORPHA:79500 |
| Craniofacial Microsomia 1 |
|
Ventricular septal defect, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial dupl... |
OMIM:164210 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... |
OMIM:100300 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Toe syndactyly, Hypoplastic sacrum, Sparse eyelashes, Sparse axillary hair, Sp... |
OMIM:604292 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme... |
OMIM:613154 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Atrial septal defect, Broad-based gait, Bicuspid aortic valve, Ven... |
ORPHA:438213 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Failure to thrive, Small for gestational age, Cataract, Sclerocorn... |
OMIM:619869 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Retinal hemorr... |
OMIM:608710 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal number of hair whorls, Mitral atresia, Optic atrophy, Double outlet right ventricle, Sup... |
OMIM:618164 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd... |
ORPHA:1521 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro... |
OMIM:601539 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Prominence of the premaxilla, Arachnodactyly, Congenital diaphragmatic hernia, M... |
OMIM:614437 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re... |
OMIM:259900 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h... |
OMIM:175780 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Accelerated skeletal maturation, Hyperlipidemia, Hyperkalemia, Obesity, Abnormal au... |
ORPHA:293987 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Delayed skeletal maturation... |
OMIM:309580 |
| Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Hypoplasia of the maxilla, Posterior embryotoxon, Abnormal anteri... |
ORPHA:782 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal maturation, Hepatic fibrosi... |
ORPHA:64 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Von Hippel-Lindau Disease |
|
Back pain, Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal p... |
ORPHA:892 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Thick eyebrow, Single transverse palmar crease, Synophrys, Obesity, Truncal obesity, ... |
ORPHA:466950 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atr... |
OMIM:619321 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Corneal dystrophy, Hypoplasi... |
ORPHA:2673 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Toe syndactyly, Sparse eyelashes, Sparse axillary hair, Spars... |
OMIM:129900 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Abnormal conjunctiva morphology, Short palm, Limbal dermoid, Failure to th... |
ORPHA:3339 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Short thumb, Clinodactyly of the 5th finger, Patent foramen ovale, Brachydactyly |
ORPHA:477993 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Trichorrhexis nodosa, Hypoplasia of the max... |
ORPHA:238468 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Spina bif... |
OMIM:267750 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Mandibular prognathia, Sparse pubic hair, Hypoplasia of the maxilla, Breast ap... |
ORPHA:3044 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Synophrys, Obesity, Astigmatism, Pes valgus, Short p... |
ORPHA:466943 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-co... |
OMIM:616562 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia |
ORPHA:64744 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Telangiectasia, Pigmentary retinopathy, A... |
OMIM:266270 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints, Accelerated skeletal maturation |
ORPHA:50945 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Alopecia, Pancytopenia, Ataxia, Sparse eyelashes, Cataract, Carious teeth... |
OMIM:305000 |
| Goodpasture Syndrome |
|
Anemia, Weight loss, Pulmonary hemorrhage, Increased blood urea nitrogen |
OMIM:233450 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Atypical or prolonged he... |
ORPHA:83471 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Hypoplasia of the maxilla, Postaxial hand p... |
OMIM:610829 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand |
OMIM:122880 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Scoliosis, Chorioretinal colo... |
OMIM:157170 |
| Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Short neck, Humeroradial synost... |
ORPHA:3404 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:305100 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypoplasia of the iris, Ectopi... |
OMIM:180500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... |
ORPHA:116 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
